Varaico: Literature-Extracted Genetic Variants

MOCS1

139 papers

RefSeq Summary

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thoug...

Pfam Domains

Radical_SAMaa 3–149UCSCRadical SAM superfamily

Fer4_12aa 72–194UCSC4Fe-4S single cluster domain

Mob_synth_Caa 154–281UCSCMolybdenum Cofactor Synthesis C

MoaCaa 493–628UCSCMoaC family

Gene Aliases

HGNC Name

molybdenum cofactor synthesis 1

HGNC Alias Symbols

MOCOD; MOCS1A; MOCS1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001358530.2

p.R112W

c.334C>T

Surrounding Variants

1 paper

NM_001358530.2

p.R112Q

c.335G>A

1 paper

NM_001358530.2

p.E105delFs

c.314delT

5 papers

NM_001358530.2

p.R123W

c.367C>T

1 paper

NM_001358530.2

p.L101L

c.301C>T

1 paper

NM_001358530.2

p.A99_N100del2

c.295_299del6

1 paper

NM_001358530.2

p.A99fs

c.295_296fs

2 papers

NM_001358530.2

p.P97delFs

c.291delG

2 papers

NM_001358530.2

p.G126A

c.377G>C

12 papers

NM_001358530.2

p.G126D

c.377G>A

3 papers

NM_001358530.2

p.G127R

c.379G>C

4 papers

NM_001358530.2

p.G127R

c.379G>A

1 paper

NM_001358530.2

p.T96A

c.286A>G